ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.250C>T (p.Arg84Trp)

gnomAD frequency: 0.00001  dbSNP: rs782306414
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001340193 SCV001533992 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-01-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 84 of the JUP protein (p.Arg84Trp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with JUP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1037093). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003416231 SCV004106437 uncertain significance JUP-related disorder 2022-10-18 criteria provided, single submitter clinical testing The JUP c.250C>T variant is predicted to result in the amino acid substitution p.Arg84Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0042% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-39925888-G-A). A different nucleotide substitution affecting the same amino acid (p.Arg84Gln) has been reported in an individual with arrhythmogenic right ventricular cardiomyopathy (Table S1A, Walsh et al. 2017. PubMed ID: 27532257). At this time, the clinical significance of the c.250C>T (p.Arg84Trp) variant is uncertain due to the absence of conclusive functional and genetic evidence.

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